• 대한유전성대사질환학회지
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• 제22권2호
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• pp.53-57
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• 2022

다양한 아미노산 및 지질 대사 질환에서 피부와 모발의 변화가 관찰된다. 탈모증이 관찰되는 경우 장병성 선단피부염(아연 대사 장애), 비오티니다아제 결핍증 (비타민 B), 다발성 카르복실라제 결핍증, acrodermatitis acidemica 등 아미노산 및 비타민 대사 결함을 의심해볼 수 있다. 또한 부서지기 쉬운 모발이 관찰되는 경우 아르기니노숙신산뇨증 또는 시트룰린혈증 및 점액다당증을 의심해볼 수 있다. 건조하고 두꺼워진 인설을 가진 피부 또는 비늘증은 중성지질 축적 질환, 지방산 대사 장애, 콜레스테롤 합성 및 대사 장애와 관련하여 나타날 수 있다. 수포성 병변은 장병성 선단피부염, 비오티니다아제 결핍증, 홀로카르복실라제 합성효소 결핍증, acrodermatitis acidemica 등에서 나타날 수 있다.

• 동의생리병리학회지
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• 제21권2호
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• pp.561-566
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• 2007

After researching on infantile diseases in Hyungsang medicine, the writer got the conclusions as follows. The infants who are excess of the Yang energy need to nourish the Eum- blood. The main causes of the infantile disorders are congenital defect and malfunction of internal organs by nature, as results of these they suffer from mental disorders or being undergrown. And after birth they get ill from internal injury or external affections, mainly epilepsy by retention of undigested food, fever, cough, asthma, nasal obstruction, dermatopathia, and affection by cold, etc. In Hyungsang medicine Dam-body is apt to get ill from deficiency of Eum-blood and bangkwang-body from deficiency of Yang-energy. And infants are hare to be moderate in food, so they become to diseases of the Spleen and stomach, especially infants with Yangmyung type get to epilepsy, cough, skin disorders, and obese for the reasonof overeating. Among main infantile symptoms congenital defects, infantile mental disorders, and convulsive diseases come from congenital defect and malfunciton of internal organs, so it must be treated the symptoms following the reasons. Above all infantile mental disorders are treated not to separate the spirit from the body. And fever, cough and asthma, affection by cold, skin diseases, poor appetite, and obese come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach. In order to prevent from infantile diseases right antenatal training, taking medicine rightly, exercise and eating good habits are needed to give guidance. Seeing through the clinical cases in Hyungsang medicine, we come to know that the infantile mental disorders come out primarily for the reasons of the congenital defect, and the infantile epilepsy come from malfunction of internal organs, and the nasal obstruction and skin diseases come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach.

• 대한유전성대사질환학회지
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• 제24권1호
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• pp.10-16
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• 2024

선천성 당화장애(CDG)는 당화 과정의 결함으로 인해 발생하는 다양한 유전 대사 장애 질환을 포함한다. 당화는 단백질 접힘, 안정성 및 세포 간 신호전달에 필수적인 생화학적 과정이다. CDG는 1980년대에 처음 발견된 이후로 분자생물학과 유전학의 발전에 따라 현재까지 163개의 아형이 발견되었고 트랜스페린 등전점 전기영동이 선별검사로 사용되고 있으며 유전학적 진단기법의 발달로 CDG의 진단이 확연히 늘었으며, 다양한 선천성 당화장애의 결함에 대한 진단 기법이 연구되고 있다. CDG의 치료는 주로 대증요법에 의존하며, 일부 아형에서 단당류, 망간, 우라신, 피리독신 등의 경구 보충요법과 간 이식, 조혈모세포 이식이 사용되고 있으며 약리학적 샤페론, 유전자 치료, 그리고 약물 재배치 연구가 진행되고 있다. CDG 환자들의 진단과 치료에 대한 지속적인 연구와 협력이 필요하다.

• Genomics & Informatics
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• 제15권3호
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• pp.82-86
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• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• 한국환경보건학회지
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• 제31권6호
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• pp.451-456
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• 2005

Minamata disease made its first appearance in the world at Minamata City, Kumamoto Prefecture, in May 1956. In 1962 methyl mercury poisoning through the placenta was found for the first time in the world. This was called congenital Minamata disease. In all cases the clinical symptoms were consistent with those of cerebral palsy. The time and place of outbreak were the same as those for Minamata disease. Their mothers had eaten fish and shellfish during pregnancy. The principal symptoms of congenital Minamata disease are mentalretardation ($100\%$); primitive reflexes ($100\%$); disturbance of coordination ($100\%$); dysarthria ($100\%$); limb deformation (100%); growth disorders ($100\%$); nutritional disorders ($100\%$); chorea-athetose ($95\%$); and hypersalivation ($95\%$). However, today, when the world is polluted by mercury in various places and at various levels, the data we need is not represented by those severe cases, but rather by the chronic milder type. Even in Minamata, the issue of Minamata disease has not been resolved. And likewise, on a global scale the problem of Minamata disease is not yet over.

• 대한유전성대사질환학회지
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• 제18권2호
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• pp.35-42
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• 2018

목적: 한국 유전학 연구소에서 실시한 광범위 신생아 스크리닝 검사(Newborn screening, NBS)로 진단된 선천성 대사질환 및 내분비질환을 가진 한국인 환아의 추적 관찰 및 장기적인 예후를 평가하기 위하여 본 연구를 시작하였다. 방법: 2000년 1월부터 2017년 12월까지 태어난 283,626명의 신생아를 대상으로 하였으며 출생 48시간 이후에 발뒤꿈치, 혹은 정맥혈액을 채취하여 특수여과지에 묻혀 건조시켰다. 건조 혈액여지를(Dried blood spot, DBS) 이용하여 탠덤 질량 분석법과 형광 면역 측정법을 사용하여 광범위 신생아 스크리닝 검사(NBS)를 실시하였다. 신생아 스크리닝 선별검사 프로그램은 갈락토오스 혈증, 선천성 갑상선 기능 저하(Congenital hypothyroidism, CH), 선천성 부신 과형성증(Congenital adrenal hyperplasia, CAH), 아미노산, 지방산 및 유기산 대사질환등 예방 가능한 질환 50여종을 선별하여 검사를 시행하였다. 결과: 광범위 신생아 스크리닝 검사(Extended NBS)를 통해 아미노산 대사질환 28예, 유기산 대사질환 75예, 지방산 대사질환 27예, 요소회로 대사질환 51예, CH 127예, CAH 14예, 갈락토스혈증 15예가 선별하여 확진검사로 진단되었다. 아미노산 대사 장애, 갈락토스혈증, CH, CAH 환자는 조기에 발견 치료 할 경우 예후가 더 좋았다. 단풍당뇨(MSUD) 환아에서는 조기 진단 치료로 90% 이상이 정상 성장 발달을 보였다. 그러나 유기산 혈증 환아에서는 32%에서 발달 지연 및 신경학적 휴유증이 관찰되었다. 지방산 대사 질환에서는 다양한 결과가 나타났다. 단쇄지방산(SCAD, EMA)와 중쇄지방산(MCA, MCAD) 환자는 예후가 좋았으나 초장쇄지방산(VLCAD) 환자는 대부분 심각한 신경학적 장애를 보이거나 사망하였다. 요소회로 대사질환(UCD) 환아는 조기진단과 치료에도 불구하고 75%가 심각한 신경학적 합병증과 높은 사망률을 경험했다. 결론: 전국적인 신생아 스크리닝(NBS) 프로그램은 국가적인 차원에서 전국민을 대상으로 포괄적인 검사, 관리, 치료가 필요하다. 이를 위하여 숙련된 의료진과 환아의 부모 혹은 관련된 가족에 대한 특수교육이 필요하다.

• Child Health Nursing Research
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• 제1권1호
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• pp.26-36
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• 1995

Children with metabolic disorders suffer from retardation and cognitive dysfunction. The task of caring for a mother may mean that she has less time and mony and more workload which may result in increased fatigue and depression and low well-being. The burden carried by mother due to the responsiblity take care of child. The descriptive study was done identify the burden in mother of children with metabolic disorders. The data was collected from November 1 to November 16, 1993. nineteen mothers were interviewed with metabolic disorders with questionnaire by mail. Burden was measured using existing tools by Zarit (1980), Montgomery(1985) . et al. Burden data was analyzed by the SPSS /pc+ program were tested using means, frequencies, Mann-Whitney, U-Wilcoxon Rank Sum Test and Kruskal-Wallis one way ANOVA The result of this study as follows : The meas score for burden was 2.8. (range from 34 to 4.95) The result of reiationship of demographic character and burden was no significant. In conclusion it was found that burden is correlated negatively to quality of life. In this study, burden was scored relatively low. Further qualitative research is needed to validats the nature of burden.

• 한국건강관리협회지
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• 제2권3호
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• pp.63-72
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• 2004

• 한국건강관리협회지
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• 제2권2호
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• pp.209-214
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• 2004

• Clinical and Experimental Pediatrics
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• 제63권3호
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.